NM_001005242.3(PKP2):c.320C>T (p.Thr107Ile) AND Cardiomyopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 28, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001524950.3
Allele description [Variation Report for NM_001005242.3(PKP2):c.320C>T (p.Thr107Ile)]
NM_001005242.3(PKP2):c.320C>T (p.Thr107Ile)
Condition(s)
- Name:
- Cardiomyopathy (CMYO)
- Synonyms:
- Cardiomyopathies
- Identifiers:
- MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
-
PREDICTED: Homo sapiens F-box DNA helicase 1 (FBH1), transcript variant X3, mRNA
PREDICTED: Homo sapiens F-box DNA helicase 1 (FBH1), transcript variant X3, mRNAgi|2217279092|ref|XM_017016842.2|Nucleotide
-
glyceraldehyde-3-phosphate dehydrogenase, partial [Stemphylium sp. EGS29-161]
glyceraldehyde-3-phosphate dehydrogenase, partial [Stemphylium sp. EGS29-161]gi|32264192|gb|AAP78595.1|Protein
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See more...Assertion and evidence details
Last Updated: Aug 4, 2024